Imelda Hughes

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli et al. · The Lancet · 2017 · 446 citations · Full text

Rare Diseases, Urology, Clinical Trials +5

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

Kristen L. Nowak, Duangrurdee Wattanasirichaigoon, Hans H. Goebel et al. · Nature Genetics · 1999 · 398 citations

Muscle Physiology, Muscle Function, Health Sciences +11

British Thoracic Society guideline for respiratory management of children with neuromuscular weakness

Jeremy Hull, Roona Aniapravan, Elaine Chan et al. · Thorax · 2012 · 378 citations · Full text

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 285 citations · Full text

Chromatin, Genome Instability, Cause Coats +9

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy

Valeria Ricotti, Deborah Ridout, E. Scott et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 255 citations